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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Serrano, Mercedes; de Diego, Víctor; Muchart, Jordi; Cuadras, Daniel; Felipe, Ana; Macaya, Alfons; Velázquez, Ramón; Poo, M Pilar; Fons, Carmen; O'Callaghan, M Mar; García-Cazorla, Angels; Boix, Cristina; Robles, Bernabé; Carratalá, Francisco; Girós, Marisa; Briones, Paz; Gort, Laura; Artuch, Rafael; Pérez-Cerdá, Celia; Jaeken, Jaak; Pérez, Belén; Pérez-Dueñas, Belén.
Afiliação
  • Serrano M; Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu, 2. 08950 Esplugues, Barcelona, Spain. mserrano@hsjdbcn.org.
  • de Diego V; Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu, 2. 08950 Esplugues, Barcelona, Spain.
  • Muchart J; Radiology Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
  • Cuadras D; Statistics Department, Fundació Sant Joan de Déu, Barcelona, Spain.
  • Felipe A; Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Secció de Neurologia Pediàtrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Macaya A; Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Secció de Neurologia Pediàtrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Velázquez R; Neurology Department, Hospital Universitario La Paz, Madrid, Spain.
  • Poo MP; Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu, 2. 08950 Esplugues, Barcelona, Spain.
  • Fons C; Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu, 2. 08950 Esplugues, Barcelona, Spain.
  • O'Callaghan MM; Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu, 2. 08950 Esplugues, Barcelona, Spain.
  • García-Cazorla A; Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu, 2. 08950 Esplugues, Barcelona, Spain.
  • Boix C; Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu, 2. 08950 Esplugues, Barcelona, Spain.
  • Robles B; Neurology Department, Hospital General de Sant Boi, Parc Sanitari Sant Joan de Déu, Sant Boi, Barcelona, Spain.
  • Carratalá F; Neurology Department, Hospital Sant Joan d'Alacant, Alicante, Spain.
  • Girós M; Hospital Clinic-IBC, IDIBAPS, Instituto de Salud Carlos III, U-737 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Barcelona, Spain.
  • Briones P; Hospital Clinic-IBC, IDIBAPS, Instituto de Salud Carlos III, U-737 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Barcelona, Spain.
  • Gort L; Hospital Clinic-IBC, IDIBAPS, Instituto de Salud Carlos III, U-737 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Barcelona, Spain.
  • Artuch R; Clinical Biochemistry Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
  • Pérez-Cerdá C; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid (UAM), U-746 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Madrid, Instituto de Salud Carlos III, IdiPAZ, Madrid, Spain.
  • Jaeken J; Center for Metabolic Disease, KULeuven, Leuven, Belgium.
  • Pérez B; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid (UAM), U-746 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Madrid, Instituto de Salud Carlos III, IdiPAZ, Madrid, Spain.
  • Pérez-Dueñas B; Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu, 2. 08950 Esplugues, Barcelona, Spain.
Orphanet J Rare Dis ; 10: 138, 2015 Oct 26.
Article em En | MEDLINE | ID: mdl-26502900
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Índice de Gravidade de Doença / Ataxia Cerebelar / Cerebelo / Fosfotransferases (Fosfomutases) / Defeitos Congênitos da Glicosilação Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Índice de Gravidade de Doença / Ataxia Cerebelar / Cerebelo / Fosfotransferases (Fosfomutases) / Defeitos Congênitos da Glicosilação Idioma: En Ano de publicação: 2015 Tipo de documento: Article